Charlotte Hobbs
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Explore the profile of Charlotte Hobbs including associated specialties, affiliations and a list of published articles.
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31
Citations
564
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Recent Articles
1.
A machine learning decision support tool optimizes WGS utilization in a neonatal intensive care unit
Juarez E, Peterson B, Kobayashi E, Gilmer S, Tobin L, Schultz B, et al.
NPJ Digit Med
. 2025 Jan;
8(1):72.
PMID: 39885315
The Mendelian Phenotype Search Engine (MPSE), a clinical decision support tool using Natural Language Processing and Machine Learning, helped neonatologists expedite decisions to whole genome sequencing (WGS) to diagnose patients...
2.
Nicoletti P, Zafer S, Matok L, Irron I, Patrick M, Haklai R, et al.
Genet Med Open
. 2024 Sep;
2.
PMID: 39345948
Purpose: The etiopathogenesis of coronal nonsyndromic craniosynostosis (cNCS), a congenital condition defined by premature fusion of 1 or both coronal sutures, remains largely unknown. Methods: We conducted the largest genome-wide...
3.
Juarez E, Peterson B, Kobayashi E, Gilmer S, Tobin L, Schultz B, et al.
medRxiv
. 2024 Jul;
PMID: 39006422
No abstract available.
4.
Chapman O, Luebeck J, Sridhar S, Wong I, Dixit D, Wang S, et al.
Nat Genet
. 2023 Nov;
55(12):2189-2199.
PMID: 37945900
Circular extrachromosomal DNA (ecDNA) in patient tumors is an important driver of oncogenic gene expression, evolution of drug resistance and poor patient outcomes. Applying computational methods for the detection and...
5.
Fecho K, Bizon C, Issabekova T, Moxon S, Thessen A, Abdollahi S, et al.
J Clin Transl Sci
. 2023 Oct;
7(1):e214.
PMID: 37900350
Knowledge graphs have become a common approach for knowledge representation. Yet, the application of graph methodology is elusive due to the sheer number and complexity of knowledge sources. In addition,...
6.
Okonechnikov K, Camgoz A, Chapman O, Wani S, Park D, Hubner J, et al.
Nat Commun
. 2023 Apr;
14(1):2300.
PMID: 37085539
Ependymoma is a tumor of the brain or spinal cord. The two most common and aggressive molecular groups of ependymoma are the supratentorial ZFTA-fusion associated and the posterior fossa ependymoma...
7.
Peterson B, Hernandez E, Hobbs C, Jenkins S, Moore B, Rosales E, et al.
Genome Med
. 2023 Mar;
15(1):18.
PMID: 36927505
Background: Rapidly and efficiently identifying critically ill infants for whole genome sequencing (WGS) is a costly and challenging task currently performed by scarce, highly trained experts and is a major...
8.
Vijayaraghavan P, Batalov S, Ding Y, Sanford E, Kingsmore S, Dimmock D, et al.
PLoS One
. 2023 Jan;
18(1):e0279430.
PMID: 36701310
Short Tandem Repeats (STRs) have been found to play a role in a myriad of complex traits and genetic diseases. We examined the variability in the lengths of over 850,000...
9.
Kobayashi E, Batalov S, Wenger A, Lambert C, Dhillon H, Hall R, et al.
Sci Rep
. 2022 Oct;
12(1):16945.
PMID: 36210382
Over the past decade, advances in genetic testing, particularly the advent of next-generation sequencing, have led to a paradigm shift in the diagnosis of molecular diseases and disorders. Despite our...
10.
Zambrano L, Ly K, Link-Gelles R, Newhams M, Akande M, Wu M, et al.
Pediatr Infect Dis J
. 2022 Sep;
41(11):891-898.
PMID: 36102740
Background: Multisystem inflammatory syndrome in children (MIS-C) is a postinfectious severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2)-related complication that has disproportionately affected racial/ethnic minority children. We conducted a pilot study...